Koolen de Vries syndrome
Other Names for this Disease
- 17q21.31 deletion syndrome
- 17q21.31 microdeletion syndrome
- Chromosome 17q21.31 microdeletion syndrome
- Koolen-De Vries syndrome
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- The 17q21.31 Research Project aims to better characterize the clinical spectrum of Koolen de Vries syndrome, to provide insights into the molecular effects of the 17q21.31 deletion and KANSL1 mutation, and to explore possibilities for treatment. These research studies are being conducted by investigators at the Department of Human Genetics, Radbound Univeristy Medical Center, Nijmegen, Netherlands and at the Department of Genome Sciences, University of Washington, Seattle, United States.
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- ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Research Resources (NCRR), a center of the National Institutes of Health (NIH), the primary Federal agency for conducting and supporting medical research. Click on the link to learn more about ResearchMatch.
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